Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants. (1st June 2022)

• Record Type: Journal Article
• Authors: Wang, Rong-Yue; Li, Yu-Juan; Zhen, Li; Jiang, Fan; Gu, Cong-Min; Li, Dong-Zhi
• Is Part Of: Fetal and pediatric pathology. Volume 41:Number 3(2022)
• Page Start: 511
• Page End: 515
• Publication Date: 2022-06-01
• Subjects: Hydatidiform mole -- recurrent molar pregnancy -- NLRP7 -- parentage; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2020.1852463
• Languages: English
• ISSNs: 1551-3815

Abstract

Abstract: Introduction: Genetically, complete hydatidiform mole (CHM) is androgenetic diploid, containing two sets of paternal chromosomes. In most cases, recurrent HM (RHM) is CHM but has diploid biparental chromosome constitution. Case report: We report a mother with RHM, both with biparental diploidy. The mother was compound heterozygous for two variants, c.1720dup, p.(C574Lfs*4) and c.2165A > G, p.(D722G) of the NLRP7 gene, as was a brother who fathered 2 normal pregnancies. Conclusion: The genotype study should be obtained for patients of CHM, even in their first pregnancy, followed by genetic screening for maternal-effect variants in those with biparental moles. This strategy will identify patients in their first pregnancy with HM that have a decreased chance for a normal pregnancy, to allow genetic counseling, perhaps utilizing a donor egg.